Varaico: Literature-Extracted Genetic Variants

FBLIM1

108 papers

RefSeq Summary

This gene encodes a protein with an N-terminal filamin-binding domain, a central proline-rich domain, and, multiple C-terminal LIM domains. This protein localizes at cell junctions and may link cell a...

Pfam Domains

LIMaa 183–240UCSCLIM domain

LIMaa 243–299UCSCLIM domain

LIMaa 303–368UCSCLIM domain

Gene Aliases

HGNC Name

filamin binding LIM protein 1

HGNC Alias Symbols

FBLP-1; CAL; migfilin

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_017556.4

p.K4N

c.12G>C

Surrounding Variants

2 papers

NM_017556.4

p.K4K

c.12G>A

1 paper

NM_017556.4

p.S11L

c.32C>T

1 paper

NM_017556.4

p.P19S

c.55C>T

1 paper

NM_017556.4

p.R22H

c.65G>A

1 paper

NM_017556.4

p.R22L

c.65G>T

1 paper

NM_017556.4

p.E36G

c.107A>G

4 papers

NM_017556.4

p.R38Q

c.113G>A

1 paper

NM_017556.4

p.R39R

c.117T>A

1 paper

NM_017556.4

p.E44Q

c.130G>C

1 paper

NM_017556.4

p.A45T

c.133G>A

1 paper

NM_017556.4

p.P46L

c.137C>T

1 paper

NM_017556.4

p.P74L

c.221C>T